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Subject Details
Country
Saudi Arabia
HPO Terms
Elevated sweat chloride; Exocrine pancreatic insufficiency; Recurrent lower respiratory tract infections
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Sex
Male
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000492.3:c.1418del
1
NA
Cystic Fibrosis
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Remarks
Patient number 'CF40' in the publication, compound heterozygous patient (2nd mutation unknown)
References
El-Harith et al. 1997
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